Diagnóstico inesperado de nefronoptisis en estudio genético de hipertensión por diagnóstico histológico de nefroangioesclerosis benigna evolucionada en paciente joven caucásico

  1. M. Heras Benito 1
  2. M.L. Pérez García 2
  3. P. Antúnez Plaza 3
  4. E. Montero Mateos 3
  1. 1 Servicio de Nefrología, Hospital Universitario de Salamanca, Salamanca, España
  2. 2 Servicio de Medicina Interna, Hospital Universitario de Salamanca, Salamanca, España
  3. 3 Servicio de Anatomía Patológica, Hospital Universitario de Salamanca, Salamanca, España
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Journal:
Hipertensión y riesgo vascular

ISSN: 1889-1837

Year of publication: 2023

Volume: 40

Issue: 3

Pages: 150-153

Type: Article

DOI: 10.1016/J.HIPERT.2023.02.001 DIALNET GOOGLE SCHOLAR

More publications in: Hipertensión y riesgo vascular

Abstract

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis.

Data source: Dialnet